Genomics England
GMS Panels
Panels
Genes and Entities

SOST

sclerostin
OMIM: 605740
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SOST-Related Sclerosing Bone Dysplasias 122860, Sclerosteosis 1, 269500, Craniodiaphyseal dysplasia, autosomal dominant, 122860
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Sclerosteosis 1 269500, Craniodiaphyseal dysplasia, autosomal dominant 122860, Van Buchem disease 239100
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Craniodiaphyseal dysplasia, autosomal dominant 122860, Van Buchem disease 239100, Sclerosteosis 1 269500